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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 11-61322299-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=11&pos=61322299&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "11",
"pos": 61322299,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001923.5",
"consequences": [
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.1119G>A",
"hgvs_p": "p.Gly373Gly",
"transcript": "NM_001923.5",
"protein_id": "NP_001914.3",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1140,
"cds_start": 1119,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000301764.12",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001923.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.1119G>A",
"hgvs_p": "p.Gly373Gly",
"transcript": "ENST00000301764.12",
"protein_id": "ENSP00000301764.7",
"transcript_support_level": 1,
"aa_start": 373,
"aa_end": null,
"aa_length": 1140,
"cds_start": 1119,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_001923.5",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000301764.12"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": true,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "n.1119G>A",
"hgvs_p": null,
"transcript": "ENST00000540166.5",
"protein_id": "ENSP00000440269.1",
"transcript_support_level": 2,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "nonsense_mediated_decay",
"feature": "ENST00000540166.5"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.1119G>A",
"hgvs_p": "p.Gly373Gly",
"transcript": "ENST00000954153.1",
"protein_id": "ENSP00000624212.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1184,
"cds_start": 1119,
"cds_end": null,
"cds_length": 3555,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954153.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.1119G>A",
"hgvs_p": "p.Gly373Gly",
"transcript": "ENST00000954157.1",
"protein_id": "ENSP00000624216.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1182,
"cds_start": 1119,
"cds_end": null,
"cds_length": 3549,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954157.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.1119G>A",
"hgvs_p": "p.Gly373Gly",
"transcript": "ENST00000867658.1",
"protein_id": "ENSP00000537717.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1147,
"cds_start": 1119,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867658.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.1119G>A",
"hgvs_p": "p.Gly373Gly",
"transcript": "ENST00000867660.1",
"protein_id": "ENSP00000537719.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1147,
"cds_start": 1119,
"cds_end": null,
"cds_length": 3444,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867660.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.1119G>A",
"hgvs_p": "p.Gly373Gly",
"transcript": "ENST00000920440.1",
"protein_id": "ENSP00000590499.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1142,
"cds_start": 1119,
"cds_end": null,
"cds_length": 3429,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920440.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.1119G>A",
"hgvs_p": "p.Gly373Gly",
"transcript": "ENST00000680367.1",
"protein_id": "ENSP00000506223.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1140,
"cds_start": 1119,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000680367.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.1119G>A",
"hgvs_p": "p.Gly373Gly",
"transcript": "ENST00000681803.1",
"protein_id": "ENSP00000506685.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1140,
"cds_start": 1119,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681803.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 10,
"exon_rank_end": null,
"exon_count": 28,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.1119G>A",
"hgvs_p": "p.Gly373Gly",
"transcript": "ENST00000920436.1",
"protein_id": "ENSP00000590495.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1140,
"cds_start": 1119,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920436.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 12,
"exon_rank_end": null,
"exon_count": 30,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.1119G>A",
"hgvs_p": "p.Gly373Gly",
"transcript": "ENST00000954149.1",
"protein_id": "ENSP00000624208.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1140,
"cds_start": 1119,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954149.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 11,
"exon_rank_end": null,
"exon_count": 29,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.1119G>A",
"hgvs_p": "p.Gly373Gly",
"transcript": "ENST00000954150.1",
"protein_id": "ENSP00000624209.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1140,
"cds_start": 1119,
"cds_end": null,
"cds_length": 3423,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954150.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.1113G>A",
"hgvs_p": "p.Gly371Gly",
"transcript": "ENST00000920438.1",
"protein_id": "ENSP00000590497.1",
"transcript_support_level": null,
"aa_start": 371,
"aa_end": null,
"aa_length": 1138,
"cds_start": 1113,
"cds_end": null,
"cds_length": 3417,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920438.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.1110G>A",
"hgvs_p": "p.Gly370Gly",
"transcript": "ENST00000954152.1",
"protein_id": "ENSP00000624211.1",
"transcript_support_level": null,
"aa_start": 370,
"aa_end": null,
"aa_length": 1137,
"cds_start": 1110,
"cds_end": null,
"cds_length": 3414,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954152.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.1119G>A",
"hgvs_p": "p.Gly373Gly",
"transcript": "ENST00000920447.1",
"protein_id": "ENSP00000590506.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1134,
"cds_start": 1119,
"cds_end": null,
"cds_length": 3405,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920447.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.1071G>A",
"hgvs_p": "p.Gly357Gly",
"transcript": "ENST00000920444.1",
"protein_id": "ENSP00000590503.1",
"transcript_support_level": null,
"aa_start": 357,
"aa_end": null,
"aa_length": 1124,
"cds_start": 1071,
"cds_end": null,
"cds_length": 3375,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920444.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.1035G>A",
"hgvs_p": "p.Gly345Gly",
"transcript": "ENST00000920439.1",
"protein_id": "ENSP00000590498.1",
"transcript_support_level": null,
"aa_start": 345,
"aa_end": null,
"aa_length": 1112,
"cds_start": 1035,
"cds_end": null,
"cds_length": 3339,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000920439.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.1119G>A",
"hgvs_p": "p.Gly373Gly",
"transcript": "ENST00000954155.1",
"protein_id": "ENSP00000624214.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1108,
"cds_start": 1119,
"cds_end": null,
"cds_length": 3327,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000954155.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.1119G>A",
"hgvs_p": "p.Gly373Gly",
"transcript": "ENST00000681935.1",
"protein_id": "ENSP00000505717.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1107,
"cds_start": 1119,
"cds_end": null,
"cds_length": 3324,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000681935.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 26,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.1119G>A",
"hgvs_p": "p.Gly373Gly",
"transcript": "ENST00000867659.1",
"protein_id": "ENSP00000537718.1",
"transcript_support_level": null,
"aa_start": 373,
"aa_end": null,
"aa_length": 1104,
"cds_start": 1119,
"cds_end": null,
"cds_length": 3315,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000867659.1"
},
{
"aa_ref": "G",
"aa_alt": "G",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 27,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "DDB1",
"gene_hgnc_id": 2717,
"hgvs_c": "c.993G>A",
"hgvs_p": "p.Gly331Gly",
"transcript": "ENST00000867657.1",
"protein_id": "ENSP00000537716.1",
"transcript_support_level": null,
"aa_start": 331,
"aa_end": null,
"aa_length": 1098,
"cds_start": 993,
"cds_end": null,
"cds_length": 3297,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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],
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.63,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"acmg_score": -17,
"acmg_classification": "Benign",
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"acmg_by_gene": [
{
"score": -17,
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"pathogenic_score": 0,
"criteria": [
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"BP7",
"BS2"
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"verdict": "Benign",
"transcript": "NM_001923.5",
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"effects": [
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"inheritance_mode": "AD",
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],
"clinvar_disease": "not provided",
"clinvar_classification": "Benign",
"clinvar_review_status": "criteria provided, multiple submitters, no conflicts",
"clinvar_submissions_summary": "B:3",
"phenotype_combined": "not provided",
"pathogenicity_classification_combined": "Benign",
"custom_annotations": null
}
],
"message": null
}